Reproductive choices and intrafamilial communication in neurogenetic diseases with different self-estimated severities.

BACKGROUND: Low uptake of presymptomatic testing and medically assisted reproduction in families impacted by neurogenetic diseases prompted us to investigate how reproductive options are considered and whether there is a relationship with perceived severity of the disease. We hypothesised that self-estimated severity would influence opinion on reproductive options and that prenatal/preimplantation diagnosis would be a motivation to inform relatives about their risk. METHODS: We invited people impacted by neurogenetic diseases to evaluate the severity of their familial disease using analogic visual scales and to answer questionnaires about reproductive choices and intrafamilial communication. We compared answers between diseases and with the perceived severity of each disease. RESULTS: We analysed 562 questionnaires. Participants were impacted by Huntington disease (n=307), spinocerebellar ataxias (n=114), Steinert myotonic dystrophy (n=82) and amyotrophic lateral sclerosis/frontotemporal dementia (n=59). Self-estimated severity differed between pathologies (p<0.0001). Overall, participants considered prenatal diagnosis (78.0±34.4 out of 100) and preimplantation diagnosis (75.2±36.1 out of 100) justified more than termination of pregnancy (68.6±38.5 out of 100). They were less in favour of gamete donation (48.3±39.8 out of 100) or pregnancy abstention (43.3±40.3 out of 100). The greater the perceived severity of the disease, the more reproductive options were considered justified, except for gamete donation. Prenatal/preimplantation diagnosis was a motivation to inform relatives for only 55.3% of participants (p=0.01). CONCLUSION: Self-estimated severity minimally impacts opinions towards reproductive options. Medically assisted reproduction procedures are rarely sought and do not motivate familial communication.

Territorial vocalization patterns of captive Asiatic lions (Panthera leo persica) in the middle of winter at high latitude.

Wild lions, especially the males, spend much of their time performing various territorial advertising behaviors, the most obvious of which are loud vocalizations that can be heard several kilometers away. This study investigated whether a captive pride of three Asiatic lions at Fota Wildlife Park in Ireland exhibited typical patterns of territorial vocalizations and associated behaviors. A total of 705 bouts of territorial vocalization were noted over 1 month of near-continuous audio recording in the middle of winter in 2020. Also, complementary visual observations were performed during regular daytime visits to collect audio data and maintain recording equipment. These captive lions exhibited generally similar territorial urine spraying, scent rubbing and vocalization behaviors to their wild counterparts but differed in that they primarily vocalized during daylight hours, including afternoons and late mornings. While most roaring occurred during the day there was also a brief peak just before dawn, between 07:00 and 08:00, and another after dusk, between 17:00 and 18:00. Vocalization activity tailed off after 22:00 and became infrequent over the remaining hours of darkness. Although this contrasts starkly with the predominantly nocturnal activity patterns of wild lions, it is consistent with some reports from some other captive settings. Although the underlying reasons for this habit of roaring throughout the day remain unclear, it is fortuitous because the spectacular territorial vocalizations of these captive lions enrich visitor experiences and may hopefully stimulate interest in travel to the low and middle-income countries where tourist income is essential to sustain the conservation areas they and many other species depend on.

Informing about genetic risk in families with Huntington disease: comparison of attitudes across two decades.

The low uptake of presymptomatic testing in Huntington disease prompted us to question family members on how they handle the transmission of information regarding genetic risk. We hypothesised that in 2019, parents would inform their at-risk children about their genetic risk more and at a younger age than in 2000, given the availability of prenatal diagnosis, French legislation changes since 2011, and recent therapeutic advances. We made a questionnaire available about the transmission of genetic information within families with Huntington disease in 2000 and 2019. We obtained 443 questionnaires (295 in 2019 and 148 in 2000). Participants were mainly at-risk for Huntington disease (n = 113), affected (n = 85), and spouses (n = 154). In 2019, participants had a higher mean education level (p < 0.01) and a mean age of 44.1 ± 15.1 years (vs 48.1 ± 11.4 years in 2000, p < 0.01). They had been informed about the risk of being a carrier at around 30 years of age (29.0 ± 14.2 in 2019 vs 32.2 ± 13.8 in 2000, p = 0.09). However, they would inform at an earlier age (≤18 years, 67% vs 59%, p = 0.16). Information on transmission risk had been given primarily by parents (45% vs 30%, p = 0.06). In addition, genetic testing for relatives unaware of their status was recommended more frequently in 2019 (46% vs 32%, p < 0.001). Respondents in 2019 recommended genetic testing more often but overall attitudes towards information and testing have not changed significantly over the 19-year time period since the questionnaire was first delivered even despite recent clinical trials potential disease modifying therapies.